Ophthalmological and Orthoptic Findings in Down Syndrome: Is Genotype-Phenotype Correlation Possible?

Area of Science:

• Ophthalmology
• Genetics
• Medical Research

Background:

• Down syndrome (DS) is a genetic disorder with variable clinical manifestations.
• Understanding genotype-phenotype correlations in DS is crucial for patient care.
• Ophthalmological abnormalities are common in individuals with DS.

Purpose of the Study:

• To investigate genotype-phenotype correlations in Down syndrome.
• To define ophthalmological findings in different cytogenetic forms of DS.
• To establish a baseline for future research on DS-related eye conditions.

Main Methods:

• Included 62 eyes from 31 DS patients, subgrouped by cytogenetic form (trisomy 21, mosaic, translocation).
• Performed comprehensive ophthalmological examinations.
• Evaluated biometric, keratometric, and pachymetric parameters.

Main Results:

• Best-corrected visual acuity (BCVA) was significantly lower in trisomy 21 compared to mosaic and translocation DS (p=0.004).
• Accommodation lags were more prevalent in trisomy 21.
• Lens opacities, fundus abnormalities, larger angle kappa, and steeper central cornea were more common in trisomy 21 (p<0.001).

Conclusions:

• Trisomy 21 is associated with poorer visual acuity and accommodation.
• Increased prevalence of lens opacities and fundus abnormalities in trisomy 21.
• Further studies with larger cohorts are needed to elucidate differences among DS cytogenetic subgroups.